Thesis defense Tessa Wassenberg (Donders series 529)

22 December 2021

Promotors: Prof. dr. M.A.A.P. Willemsen, Dr. ir. M.A. Verbeek

Monoamine neurotransmitter disorders – from biochemical aspects and clinical observations to recommendations for management

Neurotransmitters are the messenger substances in our brain and nerves.  Serotonin, dopamine, noradrenaline and adrenaline are called the monoamine neurotransmitters. These neurotransmitters are needed for a wide variety of functions, such as regulating movement, emotions and sleep, but also for blood pressure regulation. Genetic disorders can disrupt the production or breakdown of these neurotransmitters. Some neurotransmitter disorders are excellently treatable with medication, in others this is much more difficult. This dissertation studied various aspects of these disorders. An explanation was found why people with AADC deficiency have a lot of dopamine in the urine, while the dopamine in the brains is very low. Also, together with a group of international experts, a guideline has been written for the diagnosis and treatment of AADC deficiency, and the disease course of the relatively large group of people with DBH deficiency in the Netherlands has been summarised. This is important, because it allows the care of people with these conditions to be improved.